Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Stkld1'

342648

Institutional Source

Beutler Lab

Gene Symbol

Stkld1

Ensembl Gene

ENSMUSG00000049897

Gene Name

serine/threonine kinase-like domain containing 1

Synonyms

LOC279029, Gm711

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26824059-26843508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26840679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 454 (S454P)

Ref Sequence

ENSEMBL: ENSMUSP00000062967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055406] [ENSMUST00000064244] [ENSMUST00000114020] [ENSMUST00000136710]

AlphaFold

Q80YS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000055406
AA Change: S454P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: S454P

Domain	Start	End	E-Value	Type
Pfam:Pkinase	3	266	8e-35	PFAM
Pfam:Pkinase_Tyr	7	262	4.5e-27	PFAM
low complexity region	352	366	N/A	INTRINSIC
low complexity region	446	456	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064244

SMART Domains

Protein: ENSMUSP00000070815
Gene: ENSMUSG00000052406

Domain	Start	End	E-Value	Type
low complexity region	16	34	N/A	INTRINSIC
low complexity region	180	197	N/A	INTRINSIC
EXOIII	229	390	2.55e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114020

SMART Domains

Protein: ENSMUSP00000109653
Gene: ENSMUSG00000052406

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	39	57	N/A	INTRINSIC
low complexity region	203	220	N/A	INTRINSIC
EXOIII	252	413	2.55e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123126

Predicted Effect

probably benign
Transcript: ENSMUST00000136710

SMART Domains

Protein: ENSMUSP00000121599
Gene: ENSMUSG00000052406

Domain	Start	End	E-Value	Type
low complexity region	16	34	N/A	INTRINSIC
low complexity region	180	197	N/A	INTRINSIC
EXOIII	229	363	1.57e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145546

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,211,895 (GRCm39)	V157L	probably benign	Het
Actn1	G	A	12: 80,218,573 (GRCm39)	T737I	possibly damaging	Het
Ada	T	C	2: 163,574,868 (GRCm39)	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,223,837 (GRCm39)	L184*	probably null	Het
Arfgef3	T	C	10: 18,521,947 (GRCm39)	D693G	probably damaging	Het
Arid4a	A	T	12: 71,116,738 (GRCm39)	I277F	probably damaging	Het
Armh4	A	G	14: 50,011,039 (GRCm39)	S223P	probably damaging	Het
Ccdc171	A	G	4: 83,467,855 (GRCm39)	S67G	probably benign	Het
Ccr5	T	A	9: 123,924,539 (GRCm39)	F47L	probably benign	Het
Clip4	T	A	17: 72,117,862 (GRCm39)	C302*	probably null	Het
Cyth1	C	T	11: 118,075,811 (GRCm39)	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,367,480 (GRCm39)		probably null	Het
Def6	G	T	17: 28,447,121 (GRCm39)	R584L	probably benign	Het
Dnah7c	C	A	1: 46,553,743 (GRCm39)	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,247,819 (GRCm39)	C173W	probably damaging	Het
Gm14403	C	T	2: 177,200,428 (GRCm39)	H125Y	probably benign	Het
Grk3	T	C	5: 113,089,584 (GRCm39)	I323V	possibly damaging	Het
Homez	G	T	14: 55,094,487 (GRCm39)	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,037,910 (GRCm39)	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,270,104 (GRCm39)	W305R	unknown	Het
Il27ra	G	T	8: 84,763,038 (GRCm39)	N296K	probably damaging	Het
Lzic	G	T	4: 149,572,561 (GRCm39)	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,812,245 (GRCm39)	V183A	probably damaging	Het
Mme	T	A	3: 63,287,693 (GRCm39)	D731E	probably benign	Het
Mocos	T	C	18: 24,787,095 (GRCm39)	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,428,899 (GRCm39)		probably null	Het
Msh2	T	A	17: 87,987,460 (GRCm39)	V200D	possibly damaging	Het
Mug1	A	T	6: 121,834,310 (GRCm39)	I364F	probably benign	Het
Mycbp2	G	T	14: 103,414,749 (GRCm39)	S2554R	probably benign	Het
Nat10	A	G	2: 103,584,415 (GRCm39)	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,805,705 (GRCm39)	D183E	probably damaging	Het
Odr4	C	T	1: 150,260,238 (GRCm39)	V127I	probably benign	Het
Or4d10c	T	C	19: 12,065,305 (GRCm39)	I284V	possibly damaging	Het
Or51ac3	A	T	7: 103,213,639 (GRCm39)	F282L	probably damaging	Het
Or52h1	C	A	7: 103,828,636 (GRCm39)		probably null	Het
Or5d14	T	C	2: 87,880,823 (GRCm39)	I48M	probably benign	Het
Pak6	T	A	2: 118,527,021 (GRCm39)	I672K	probably damaging	Het
Pan3	A	T	5: 147,479,983 (GRCm39)	I830F	probably damaging	Het
Pcdh9	A	T	14: 94,125,628 (GRCm39)	L181I	probably damaging	Het
Pigg	G	A	5: 108,480,556 (GRCm39)	A447T	probably benign	Het
Pitpnb	T	A	5: 111,519,214 (GRCm39)	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,560,590 (GRCm39)	Y67C	probably damaging	Het
Plch1	A	G	3: 63,688,928 (GRCm39)	I80T	probably damaging	Het
Pnma1	A	G	12: 84,194,235 (GRCm39)	I156T	probably benign	Het
Prss21	G	T	17: 24,091,796 (GRCm39)	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,169,642 (GRCm39)	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,633,385 (GRCm39)	F78L	probably benign	Het
Riok3	T	A	18: 12,269,844 (GRCm39)	Y92N	probably benign	Het
Rpap2	T	C	5: 107,768,361 (GRCm39)	S400P	probably benign	Het
Ryr3	C	A	2: 112,705,478 (GRCm39)	G792V	probably damaging	Het
Septin3	A	G	15: 82,170,092 (GRCm39)	E206G	probably damaging	Het
Tdh	A	T	14: 63,733,326 (GRCm39)	L140Q	probably damaging	Het
Tex15	T	A	8: 34,047,401 (GRCm39)	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,790,793 (GRCm39)	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,454,204 (GRCm39)	L290*	probably null	Het
Vmn1r31	A	G	6: 58,449,596 (GRCm39)	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,404,822 (GRCm39)	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,192,548 (GRCm39)	I42F	probably damaging	Het
Vps35	G	A	8: 86,014,331 (GRCm39)	P106L	probably damaging	Het
Xrcc6	T	A	15: 81,906,661 (GRCm39)	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,695,465 (GRCm39)	P388S	probably damaging	Het
Zfp541	C	T	7: 15,817,261 (GRCm39)	A902V	probably benign	Het

Other mutations in Stkld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Stkld1	APN	2	26,841,483 (GRCm39)	missense	probably benign	0.01
IGL02183:Stkld1	APN	2	26,836,671 (GRCm39)	missense	probably benign	0.04
IGL02393:Stkld1	APN	2	26,840,154 (GRCm39)	missense	probably benign	0.41
IGL03136:Stkld1	APN	2	26,841,435 (GRCm39)	missense	probably benign	0.00
IGL03261:Stkld1	APN	2	26,842,789 (GRCm39)	missense	probably benign	0.21
R0067:Stkld1	UTSW	2	26,839,352 (GRCm39)	missense	probably benign	0.01
R0067:Stkld1	UTSW	2	26,839,352 (GRCm39)	missense	probably benign	0.01
R0973:Stkld1	UTSW	2	26,841,462 (GRCm39)	missense	probably benign	0.00
R1065:Stkld1	UTSW	2	26,830,050 (GRCm39)	missense	probably damaging	0.97
R1467:Stkld1	UTSW	2	26,839,407 (GRCm39)	missense	probably benign	0.00
R1467:Stkld1	UTSW	2	26,839,407 (GRCm39)	missense	probably benign	0.00
R1565:Stkld1	UTSW	2	26,840,102 (GRCm39)	missense	probably benign	0.00
R1844:Stkld1	UTSW	2	26,840,115 (GRCm39)	missense	probably damaging	1.00
R1871:Stkld1	UTSW	2	26,827,985 (GRCm39)	unclassified	probably benign
R1965:Stkld1	UTSW	2	26,836,744 (GRCm39)	splice site	probably null
R2001:Stkld1	UTSW	2	26,842,759 (GRCm39)	missense	probably damaging	1.00
R2308:Stkld1	UTSW	2	26,842,726 (GRCm39)	missense	probably damaging	0.98
R2566:Stkld1	UTSW	2	26,840,650 (GRCm39)	missense	probably damaging	1.00
R3929:Stkld1	UTSW	2	26,830,059 (GRCm39)	critical splice donor site	probably null
R4257:Stkld1	UTSW	2	26,833,146 (GRCm39)	missense	probably benign	0.02
R4493:Stkld1	UTSW	2	26,836,638 (GRCm39)	missense	probably benign	0.00
R4494:Stkld1	UTSW	2	26,836,638 (GRCm39)	missense	probably benign	0.00
R4775:Stkld1	UTSW	2	26,841,757 (GRCm39)	missense	probably damaging	0.99
R5601:Stkld1	UTSW	2	26,842,717 (GRCm39)	missense	probably damaging	1.00
R5707:Stkld1	UTSW	2	26,833,999 (GRCm39)	missense	probably damaging	1.00
R6259:Stkld1	UTSW	2	26,839,393 (GRCm39)	missense	possibly damaging	0.70
R6306:Stkld1	UTSW	2	26,833,899 (GRCm39)	missense	probably damaging	0.98
R6349:Stkld1	UTSW	2	26,835,872 (GRCm39)	missense	probably benign	0.00
R6418:Stkld1	UTSW	2	26,831,093 (GRCm39)	missense	possibly damaging	0.47
R6806:Stkld1	UTSW	2	26,833,922 (GRCm39)	missense	probably benign	0.01
R7079:Stkld1	UTSW	2	26,839,359 (GRCm39)	missense	probably benign	0.00
R7199:Stkld1	UTSW	2	26,842,726 (GRCm39)	missense	probably damaging	0.98
R7522:Stkld1	UTSW	2	26,837,259 (GRCm39)	missense	probably benign	0.13
R7556:Stkld1	UTSW	2	26,837,307 (GRCm39)	missense	possibly damaging	0.74
R7813:Stkld1	UTSW	2	26,835,888 (GRCm39)	nonsense	probably null
R8165:Stkld1	UTSW	2	26,836,668 (GRCm39)	missense	probably benign	0.01
R8330:Stkld1	UTSW	2	26,841,515 (GRCm39)	missense	probably benign	0.00
R8709:Stkld1	UTSW	2	26,835,817 (GRCm39)	missense	probably benign	0.03
R8935:Stkld1	UTSW	2	26,833,941 (GRCm39)	nonsense	probably null
R9137:Stkld1	UTSW	2	26,840,572 (GRCm39)	missense	probably benign	0.00
R9599:Stkld1	UTSW	2	26,843,297 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CCCACTGAGAAAAGGTAGTGC -3'
(R):5'- TTCTTCACGACAGCTGGTAC -3'

Sequencing Primer
(F):5'- CTGGGGAAGGCTTCTTGGAAAC -3'
(R):5'- CGACAGCTGGTACACTTCATG -3'

Posted On

2015-09-24